Variant #0000306447 (NC_000020.10:g.5283237T>C, PROKR2(NM_144773.2):c.604A>G)

Chromosome 20
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.5283237T>C
DNA change (hg38) g.5302591T>C
Published as PROKR2(NM_144773.3):c.604A>G (p.S202G)
ISCN -
DB-ID PROKR2_000003
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.0002 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PROKR2 NM_144773.2 -?/. - c.604A>G r.(?) p.(Ser202Gly)